Malan Syndrome Awareness Day Date in the current year: August 19, 2025

Overgrowth syndromes are a group of medical conditions in which a person’s body or parts of it grow larger than normal due to genetic or other biological changes affecting growth control. These syndromes can cause increased height, a larger head or limbs, or excessive growth of certain organs.

In Malan syndrome, tissue overgrowth is caused by mutations in the NFIX gene, which plays an important role in embryonic development by activating or deactivating specific genes. Malan syndrome is inherited in an autosomal dominant pattern, meaning one mutated copy of the gene is sufficient to cause the syndrome. Nearly all cases are caused by de novo (spontaneous) mutations.

Malan syndrome was first reported in a research paper published in 2010 by Valerie Malan and her colleagues. Prior to that, it had been diagnosed as a subtype of Sotos syndrome. Around 350 individuals have been confirmed to have Malan syndrome, but its actual incidence may be higher than expected because genetic testing is not widely available in many parts of the world.

Individuals with Malan syndrome typically have above-average weight and height, as well as a large head circumference (macrocephalia), in early life. Another prominent sign of the syndrome is craniofacial dysmorphia, which can include a long or triangular face, a tall forehead, low-set ears, a thin upper lip, a small mouth, deep-set eyes, down-slanting eyes, a short nose, and a long medial cleft (the area between the nose and upper lip).

Many patients with Malan syndrome have marfanoid features, i.e., characteristics similar to those of Marfan syndrome, such as long limbs, scoliosis, sternum malformations, and joint hypermobility. Hypotonia (low muscle tone) is also common.

All individuals with Malan syndrome have some degree of developmental delay and intellectual disability, which usually ranges from mild to severe. They typically experience delayed gross and fine motor skills, as well as speech delay. Other clinical features of Malan syndrome may include autistic traits, behavioral issues such as anxiety and mood swings, vision and hearing impairments, an enlarged aorta, and seizures.

As with many similar genetic conditions, there is no cure for Malan syndrome. Treatment focuses on managing symptoms and may include speech therapy, assistive communication technology, physical and occupational therapy, behavioral therapy, appropriate seizure treatment, and more. Most patients with Malan syndrome are happy, social, and eager to learn. However, early intervention is crucial for successful management.

Malan Syndrome Awareness Day was created to raise awareness of this rare disorder, support affected families, encourage further research, and promote better access to genetic testing. You can get involved by learning more about the syndrome, sharing what you’ve learned with others, donating to an organization that supports patients or funds research, and spreading the word on social media using the hashtag #MalanSyndromeAwarenessDay.